{
  "id": 9178,
  "label": "joint laxity, familial",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007842",
  "properties": {
    "xrefs": [
      "GARD:0003054",
      "MEDGEN:120629",
      "MESH:C535884",
      "OMIM:147900",
      "Orphanet:2295",
      "SCTID:71322004",
      "UMLS:C0268349"
    ],
    "synonyms": [
      "EDS XI",
      "Ehlers-Danlos syndrome type 11, formerly",
      "Joint instability syndrome",
      "familial joint instability syndrome",
      "familial joint laxity",
      "joint laxity, familial",
      "EDS 11 (formerly)",
      "EDS Xi",
      "EDS Xi, formerly",
      "EDS11",
      "EDS11, formerly",
      "Ehlers-Danlos syndrome, type 11 (formerly)",
      "Ehlers-Danlos syndrome, type Xi",
      "Ehlers-Danlos syndrome, type Xi, formerly",
      "articular hypermobility syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}